ABSTRACT
INTRODUCTION: Therapeutic management of inborn errors of metabolism (IEMs) is complicated. The drugs involved are classified as orphan, and their supply depends on whether they are orphan medicines, investigational drugs, or need to be prepared as a compounded formula. MATERIALS AND METHODS: We analyzed emergency criteria, availability, and permanent location of metabolic drugs within the hospital. Information on therapeutic usage, administration, and dosage was also recorded. RESULTS: A stock for treating IEMs should include chelating agents, drugs to treat deficiencies, enzyme supplements, and other specific treatments. Hyperammonemia was considered to be life-threatening; therefore, an emergency supply of drugs to treat this condition should be kept permanently in the hospitalization unit. CONCLUSIONS: Emergency drug stocks are highly recommended in tertiary hospitals in order to improve care for patients susceptible to IEM.
